Matsuo N - Search Results

1

Joint laxity, vitreoretinal degeneration, facial abnormalities, and generalized skeletal alterations: a new syndrome?

Nishimura G, Hasegawa T, Sugii K, Tsuyama K, Matsuo N. Nishimura G, et al. Among authors: matsuo n. J Hum Genet. 1998;43(3):191-4. doi: 10.1007/s100380050068. J Hum Genet. 1998. PMID: 9747034

2

A case of skeletal dysplasia with advanced carpal ossification and "monkey wrench" appearance of the femora: mild Desbuquois dysplasia?

Nishimura G, Sato S, Ogata T, Tamai S, Hasegawa T, Matsuo N. Nishimura G, et al. Among authors: matsuo n. Eur J Pediatr. 1996 Dec;155(12):1040-2. doi: 10.1007/BF02532527. Eur J Pediatr. 1996. PMID: 8956941

3

Oto-palato-digital syndrome, type II: evidence for defective intramembranous ossification.

Ogata T, Matsuo N, Nishimura G, Hajikano H. Ogata T, et al. Among authors: matsuo n. Am J Med Genet. 1990 Jun;36(2):226-31. doi: 10.1002/ajmg.1320360217. Am J Med Genet. 1990. PMID: 2114799

4

Broad proximal phalanx, facial anomalies, hallux valgus, and bronchomalacia: additional case.

Tanaka Y, Matsuo N, Nishimura G, Nagai T. Tanaka Y, et al. Among authors: matsuo n. Am J Med Genet. 1994 Apr 1;50(2):211-2. doi: 10.1002/ajmg.1320500214. Am J Med Genet. 1994. PMID: 8068091 No abstract available.

5

Further clinical model for the possible impairment of a putative lymphogenic gene(s) for Turner stigmata.

Ogata T, Hasegawa T, Matsuo N. Ogata T, et al. Among authors: matsuo n. Hum Genet. 1997 Feb;99(2):290. doi: 10.1007/s004390050358. Hum Genet. 1997. PMID: 9048940 No abstract available.

6

SHOX haploinsufficiency and overdosage: impact of gonadal function status.

Ogata T, Matsuo N, Nishimura G. Ogata T, et al. Among authors: matsuo n. J Med Genet. 2001 Jan;38(1):1-6. doi: 10.1136/jmg.38.1.1. J Med Genet. 2001. PMID: 11134233 Free PMC article. Review.

7

Coarctation of the aorta and renal hypoplasia in a boy with Turner/Noonan surface anomalies and a 46,XY karyotype: a clinical model for the possible impairment of a putative lymphogenic gene(s) for Turner somatic stigmata.

Hasegawa T, Ogata T, Hasegawa Y, Honda M, Nagai T, Fukushima Y, Nakahori Y, Matsuo N. Hasegawa T, et al. Among authors: matsuo n. Hum Genet. 1996 May;97(5):564-7. doi: 10.1007/BF02281861. Hum Genet. 1996. PMID: 8655131

8

Standard growth curves for Japanese patients with Prader-Willi syndrome.

Nagai T, Matsuo N, Kayanuma Y, Tonoki H, Fukushima Y, Ohashi H, Murai T, Hasegawa T, Kuroki Y, Niikawa N. Nagai T, et al. Among authors: matsuo n. Am J Med Genet. 2000 Nov 13;95(2):130-4. doi: 10.1002/1096-8628(20001113)95:2<130::aid-ajmg7>3.0.co;2-r. Am J Med Genet. 2000. PMID: 11078562

9

Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: implications for the development of Turner syndrome.

Kosho T, Muroya K, Nagai T, Fujimoto M, Yokoya S, Sakamoto H, Hirano T, Terasaki H, Ohashi H, Nishimura G, Sato S, Matsuo N, Ogata T. Kosho T, et al. Among authors: matsuo n. J Clin Endocrinol Metab. 1999 Dec;84(12):4613-21. doi: 10.1210/jcem.84.12.6289. J Clin Endocrinol Metab. 1999. PMID: 10599728

10

Digynic triploid infant surviving for 46 days.

Hasegawa T, Harada N, Ikeda K, Ishii T, Hokuto I, Kasai K, Tanaka M, Fukuzawa R, Niikawa N, Matsuo N. Hasegawa T, et al. Among authors: matsuo n. Am J Med Genet. 1999 Dec 3;87(4):306-10. doi: 10.1002/(sici)1096-8628(19991203)87:4<306::aid-ajmg5>3.0.co;2-6. Am J Med Genet. 1999. PMID: 10588835 Review.

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